Details of Disease | DrugMAP

General Information of Disease (ID: DISLGEYP)

Disease Name	Striate palmoplantar keratoderma
Synonyms	keratosis palmoplantaris striata; keratosis palmoplantaris striata et areata; keratosis palmoplantaris varians of Wachters
Definition	Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.
Disease Hierarchy	DISGLKBI: Focal palmoplantar keratoderma DISLGEYP: Striate palmoplantar keratoderma
Disease Identifiers	MONDO ID MONDO_0018865 UMLS CUI C4707237 MedGen ID 1631598 Orphanet ID 50942 SNOMED CT ID 764958008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DSG1	OT11HC3A	Supportive	Autosomal dominant	[1]
DSP	OTB2MOP8	Supportive	Autosomal dominant	[2]
KRT1	OTIOJWA4	Supportive	Autosomal dominant	[3]
IVL	OT4VPNGY	Strong	Altered Expression	[4]
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References

1	N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet. 1999 Jun;8(6):971-6. doi: 10.1093/hmg/8.6.971.
2	Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet. 1999 Jan;8(1):143-8. doi: 10.1093/hmg/8.1.143.
3	Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol. 2002 May;118(5):838-44. doi: 10.1046/j.1523-1747.2002.01750.x.
4	Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network.Br J Dermatol. 2004 May;150(5):878-91. doi: 10.1111/j.1365-2133.2004.05996.x.